INTESTINAL ENTEROKINASE (EK) DEFICIENCY IN 2 SIBLINGS
نویسندگان
چکیده
منابع مشابه
Intestinal enterokinase deficiency.
Enterokinase is an enzyme secreted by the mucosa of the small intestine and is responsible for the conversion of trypsinogen to its active product, trypsin. Its key role in initiating the formation of proteolytic enzymes from their inactive precursors is illustrated in Fig. 1. When the pancreatic zymogens reach the duodenum, trypsin is formed by the action of enterokinase on trypsinogen and thi...
متن کاملIntestinal enterokinase deficiency. Occurrence in two sibs and age dependency of clinical expression.
Intestinal enterokinase deficiency in 2 sibs in described. A boy failed to gain weight and had vomiting, diarrhoea, oedema, hypoproteinaemia, and anaemia in early infancy. His duodenal juice contained very low or absent proteolytic enzyme activity, which increased markedly after addition of enterokinase. He was treated with pancreatic extract and gained weight rapidly. At 44 months of age he is...
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BACKGROUND Sepiapterin reductase (SR) deficiency is a rare inherited disorder of neurotransmitter metabolism; less than 25 cases have been described in the literature so far. METHODS We describe the clinical history and extensive cerebrospinal fluid (CSF) and urine examination of two Greek siblings with the diagnosis of SR deficiency. The diagnosis was confirmed by enzyme activity measurement...
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Enterokinase was measured in peroral intestinal biopsies showing normal histology and in those from untreated coeliac patients which showed gross villous atrophy. There was no significant difference in the specific activity of enterokinase between these two groups. These results do not support the recent hypothesis that enterokinase is a brush border enzyme, but would be consistent with the ide...
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Severe congenital neutropenia (SCN) is a rare primary immunodeficiency disease that is characterized by persistent severe neutropenia and severe early-onset bacterial infections. We report the case of 2 siblings with SCN who were the children of consanguineous parents. The HAX1 mutation was identified in both siblings. Both patients suffered from oral ulcers, candidiasis, respiratory tract infe...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1974
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197404000-00267